Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses

Clinical psychiatry is confronted with the expanding knowledge of medical genetics. Most of the research into the genetic underpinnings of major mental disorders as described in the categorical taxonomies, however, did reveal linkage with a variety of chromosomes. This heterogeneity of results is most probably due to the assumption that the nosological categories as used in these studies are disease entities with clear boundaries. If the reverse way of looking, the so-called bottom-up approach, is applied, it becomes clear that genetic abnormalities are in most cases not associated with a single psychiatric disorder but with a certain probability to develop a variety of aspecific psychiatric symptoms. The adequacy of the categorical taxonomy, the so-called top-down approach, seems to be inversely related to the amount of empirical etiological data. This is illustrated by four rather prevalent genetic syndromes, fragile X syndrome, Prader-Willi syndrome, 22q11 deletion syndrome, and Noonan syndrome, as well as by some cases with rare chromosomal abnormalities. From these examples, it becomes clear that psychotic symptoms as well as mood, anxiety, and autistic features can be found in a great variety of different genetic syndromes. A psychiatric phenotype exists, but comprises, apart from the chance to present several psychiatric symptoms, all elements from developmental, neurocognitive, and physical characteristics

Recurrent schizophrenia-like psychosis as first manifestation of epilepsy: a diagnostic challenge in neuropsychiatry

Since the 1950s, several studies have been carried out to investigate the occurrence of schizophrenia-like psychoses in epilepsy. The psychopathological profile comprises symptoms from the affective, schizophrenic, and cognitive domains and the prevalence varies between 2% to 20%. Classification of such conditions is performed according to their temporal relationship with the seizure itself. Although it is well known that epilepsy may be associated with psychotic disorders, it is less widely recognized that relapsing psychotic phenomena may be the first and only symptom of epilepsy. In this research, two patients are described who were initially referred for recurrent episodes of bipolar affective disorder and schizophrenic psychosis, respectively. In both patients, a diagnosis of relapsing postictal psychotic states due to previously undiagnosed epilepsy was made and consequently, treatment with antiepileptics was started. During follow up over several months, they remained free of both epileptic and psychotic symptoms. Given the kaleidoscopic nature of the postictal psychosis and full recovery from this, such psychoses best meet the criteria for a cycloid psychosis. These observations illustrate diagnostic and therapeutic pitfalls due to the conceptual disintegration emerging from the inadequate separation between psychiatry and neurology. Therefore, the importance of a neuropsychiatric viewpoint should be promoted

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

The 22q13.3 deletion, or Phelan-McDermid syndrome, is characterized by global intellectual disability, generalized hypotonia, severely delayed or absent speech associated with features of autism spectrum disorder, and minor dysmorphisms. Its behavioral phenotype comprises sleep disturbances, communication deficits, and motor perseverations. Data on psychological dysfunctions are so far not available. Previous studies have suggested that the loss of one copy of the gene SH3 and multiple ankyrin repeat domains 3 (SHANK3) is related to the neurobehavioral phenotype. Additional genes proximal to SHANK3 are also likely to play a role in the phenotype of patients with larger deletions. The present paper describes two adult brothers with an identical 2.15 Mb 22qter (22q13.32q13.33) deletion, of whom the youngest was referred for evaluation of recurrent mood changes. In both patients, magnetic resonance imaging of the brain showed hypoplasia of the vermis cerebelli. Extensive clinical examinations led to a final diagnosis of atypical bipolar disorder, of which symptoms fully remitted during treatment with a mood stabilizer. In the older brother, a similar psychopathological picture appeared to be present, although less severe and with a later onset. It is concluded that the behavioral phenotype of the 22q13.3 deletion syndrome comprises absent or delayed speech and perseverations with associated autistic-like features, whereas its psychopathological phenotype comprises an atypical bipolar disorder. The latter may have implications for the treatment regime of the syndrome-related behavioral disturbances

Nitrogen-doping of bulk and nanotubular TiO2 photocatalysts by plasma-assisted atomic layer deposition

Plasma-assisted atomic layer deposition (PA-ALD) was adopted to deposit TiO2-xNx ultrathin layers on Si wafers, calcined Ti foils and nanotubular TiO2 arrays. A range of N content and chemical bond configurations were obtained by varying the background gas (O2 or N2) during the Ti precursor exposure, while the N2/H2-fed inductively coupled plasma exposure time was varied between 2 and 20 s. On calcined Ti foils, a positive effect from N doping on photocurrent density was observed when O2 was the background gases with a short plasma exposure time (5 and 10 s). This correlated with the presence of interstitial N states in the TiO2 with a binding energy of 400 eV (Ninterst) as measured by X-ray photoelectron spectroscopy. A longer plasma time or the use of N2 as background gas resulted in formation of N state with a binding energy of 396 eV (Nsubst) and very low photocurrents. These Nsubst are linked to the presence of Ti3+, which act as detrimental recombination centers for photo-generated electron-hole pairs. On contrary, PA-ALD treated nanotubular TiO2 arrays show no variation of photocurrent density (with respect to the pristine nanotubes) upon different plasma exposure times and when the O2 recipe was adopted. This is attributed to constant N content in the PA-ALD TiO2-xNx, regardless of the adopted recipe

Chronic psychosocial and financial burden accelerates 5-year telomere shortening: findings from the Coronary Artery Risk Development in Young Adults Study.

Leukocyte telomere length, a marker of immune system function, is sensitive to exposures such as psychosocial stressors and health-maintaining behaviors. Past research has determined that stress experienced in adulthood is associated with shorter telomere length, but is limited to mostly cross-sectional reports. We test whether repeated reports of chronic psychosocial and financial burden is associated with telomere length change over a 5-year period (years 15 and 20) from 969 participants in the Coronary Artery Risk Development in Young Adults (CARDIA) Study, a longitudinal, population-based cohort, ages 18-30 at time of recruitment in 1985. We further examine whether multisystem resiliency, comprised of social connections, health-maintaining behaviors, and psychological resources, mitigates the effects of repeated burden on telomere attrition over 5 years. Our results indicate that adults with high chronic burden do not show decreased telomere length over the 5-year period. However, these effects do vary by level of resiliency, as regression results revealed a significant interaction between chronic burden and multisystem resiliency. For individuals with high repeated chronic burden and low multisystem resiliency (1 SD below the mean), there was a significant 5-year shortening in telomere length, whereas no significant relationships between chronic burden and attrition were evident for those at moderate and higher levels of resiliency. These effects apply similarly across the three components of resiliency. Results imply that interventions should focus on establishing strong social connections, psychological resources, and health-maintaining behaviors when attempting to ameliorate stress-related decline in telomere length among at-risk individuals

Dutch home-based pre-reading intervention with children at familial risk of dyslexia

Children (5 and 6 years old, n = 30) at familial risk of dyslexia received a home-based intervention that focused on phoneme awareness and letter knowledge in the year prior to formal reading instruction. The children were compared to a no-training at-risk control group (n = 27), which was selected a year earlier. After training, we found a small effect on a composite score of phoneme awareness (d = 0.29) and a large effect on receptive letter knowledge (d = 0.88). In first grade, however, this did not result in beneficial effects for the experimental group in word reading and spelling. Results are compared to three former intervention studies in The Netherlands and comparable studies from Denmark and Australia

Secret seducers - True tales of pimps in the red light district of Amsterdam

At the end of the 1990s, a moral panic erupted in the Netherlands about the phenomenon of what came to be known as 'loverboys'. The suspicion was that a growing number of Dutch girls were being groomed by handsome young men who employed all sorts of devious methods to prepare their girlfriends for life as a prostitute. Stories about a new generation of pimps, often of Moroccan origin, regularly appeared in the Dutch media. In this article, based on ethnographic fieldwork on pimps operating in the red-light district of Amsterdam, we describe the ways in which these young men operate and how they justify their behaviour. On the basis of empirical research we intend to present a more realistic picture of what goes on in the prostitution industry and highlight the discrepancy between what is reported in the media and what is actually happening in the prostitution sector. We also examine the background to the moral panic about loverboys and the ways in which these young men were supposedly able to induce many young girls into becoming prostitutes

Stress related epigenetic changes may explain opportunistic success in biological invasions in Antipode mussels

Different environmental factors could induce epigenetic changes, which are likely involved in the biological invasion process. Some of these factors are driven by humans as, for example, the pollution and deliberate or accidental introductions and others are due to natural conditions such as salinity. In this study, we have analysed the relationship between different stress factors: time in the new location, pollution and salinity with the methylation changes that could be involved in the invasive species tolerance to new environments. For this purpose, we have analysed two different mussels’ species, reciprocally introduced in antipode areas: the Mediterranean blue mussel Mytilus galloprovincialis and the New Zealand pygmy mussel Xenostrobus securis, widely recognized invaders outside their native distribution ranges. The demetylathion was higher in more stressed population, supporting the idea of epigenetic is involved in plasticity process. These results can open a new management protocols, using the epigenetic signals as potential pollution monitoring tool. We could use these epigenetic marks to recognise the invasive status in a population and determine potential biopollutants

Regional Genetic Structure in the Aquatic Macrophyte Ruppia cirrhosa Suggests Dispersal by Waterbirds

The evolutionary history of the genus Ruppia has been shaped by hybridization, polyploidisation and vicariance that have resulted in a problematic taxonomy. Recent studies provided insight into species circumscription, organelle takeover by hybridization, and revealed the importance of verifying species identification to avoid distorting effects of mixing different species, when estimating population connectivity. In the present study, we use microsatellite markers to determine population diversity and connectivity patterns in Ruppia cirrhosa including two spatial scales: (1) from the Atlantic Iberian coastline in Portugal to the Siculo-Tunisian Strait in Sicily and (2) within the Iberian Peninsula comprising the Atlantic-Mediterranean transition. The higher diversity in the Mediterranean Sea suggests that populations have had longer persistence there, suggesting a possible origin and/or refugial area for the species. The high genotypic diversities highlight the importance of sexual reproduction for survival and maintenance of populations. Results revealed a regional population structure matching a continent-island model, with strong genetic isolation and low gene flow between populations. This population structure could be maintained by waterbirds, acting as occasional dispersal vectors. This information elucidates ecological strategies of brackish plant species in coastal lagoons, suggesting mechanisms used by this species to colonize new isolated habitats and dominate brackish aquatic macrophyte systems, yet maintaining strong genetic structure suggestive of very low dispersal.Fundacao para a Cincia e Tecnologia (FCT, Portugal) [PTDC/MAR/119363/2010, BIODIVERSA/0004/2015, UID/Multi/04326/2013]Pew FoundationSENECA FoundationMurcia Government, Spain [11881/PI/09]FCT Investigator Programme-Career Development [IF/00998/2014]Spanish Ministry of Education [AP2008-01209]European Community [00399/2012]info:eu-repo/semantics/publishedVersio

Two years after molecular diagnosis of familial hypercholesterolemia: Majority on cholesterol-lowering treatment but a minority reaches treatment goal

Background: The risk of premature cardiovascular disease in patients with familial hypercholesterolemia (FH) can be profoundly reduced by cholesterol-lowering therapy, and current guidelines for FH advocate ambitious low-density lipoprotein cholesterol (LDL-C) goals. In the present study, we determined whether these goals are reflected in current clinical practice once FH has been diagnosed. Methodology/Principal Findings: In 2008, we sent questionnaires to all subjects (aged 18-65 years) who were molecularly diagnosed with FH in the year 2006 through the screening program in the Netherlands. Of these 1062 subjects, 781 completed the questionnaire (46% males; mean age: 42±12 years; mean LDL-C at molecular diagnosis (baseline): 4.1±1.3 mmol/L). The number of persons that used cholesterol-lowering therapy increased from 397 (51%) at baseline to 636 (81%) after diagnosis. Mean treated LDL-C levels decreased significantly to 3.2±1.1 mmol/L two years after diagnosis. Only 22% achieved the LDL-C target level of ≤2.5 mmol/L. Conclusions/Significance: The proportion of patients using cholesterol-lowering medication was significantly increased after FH diagnosis through